Variant report

Variant	esv3351517
Chromosome Location	chr1:245956283-245969991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr1:245961588-245961899	GM12878	blood:	n/a	n/a
2	CEBPB	chr1:245968485-245968683	HepG2	liver:	n/a	chr1:245968630-245968641 chr1:245968534-245968545
3	CTCF	chr1:245960956-245961262	HepG2	liver:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
4	CTCF	chr1:245960980-245961130	NHEK	skin:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
5	CTCF	chr1:245961040-245961190	AG04449	skin:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
6	CTCF	chr1:245960972-245961185	Medullo	brain:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
7	CTCF	chr1:245960980-245961130	HCT-116	colon:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
8	CTCF	chr1:245960907-245961263	IMR90	lung:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
9	CTCF	chr1:245960978-245961181	HepG2	liver:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
10	CTCF	chr1:245960996-245961167	Hela-S3	cervix:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
11	CTCF	chr1:245961020-245961170	SAEC	small airway:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
12	CTCF	chr1:245960987-245961154	H1-hESC	embryonic stem cell:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
13	CTCF	chr1:245961000-245961150	HRE	kidney:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
14	CTCF	chr1:245961440-245961590	AG09319	gingival:	n/a	n/a
15	CTCF	chr1:245960881-245961330	HCT-116	colon:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
16	CTCF	chr1:245961050-245961113	NHEK	skin:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
17	CTCF	chr1:245961071-245961099	Fibrobl	skin:	n/a	n/a
18	CTCF	chr1:245961020-245961170	HEK293	kidney:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
19	CTCF	chr1:245961060-245961210	AG04450	lung:	n/a	chr1:245961064-245961080 chr1:245961063-245961081
20	CTCF	chr1:245960980-245961130	GM12865	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
21	CTCF	chr1:245961080-245961230	HCM	heart:	n/a	n/a
22	CTCF	chr1:245961000-245961150	HPAF	blood vessel:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
23	CTCF	chr1:245961020-245961170	HMEC	breast:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
24	CTCF	chr1:245961020-245961170	AG09319	gingival:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
25	CTCF	chr1:245961040-245961190	AG09309	skin:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
26	CTCF	chr1:245961000-245961150	GM12871	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
27	CTCF	chr1:245960998-245961173	GM13977	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
28	CTCF	chr1:245961020-245961170	HRPEpiC	eye:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
29	CTCF	chr1:245961020-245961170	GM12864	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
30	CTCF	chr1:245961000-245961150	HPF	lung:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
31	CTCF	chr1:245961017-245961142	MCF-7	breast:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
32	CTCF	chr1:245960960-245961110	WERI-Rb-1	eye:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
33	CTCF	chr1:245960980-245961130	AG10803	skin:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
34	CTCF	chr1:245961000-245961150	HEEpiC	esophagus:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
35	CTCF	chr1:245960892-245961290	K562	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
36	CTCF	chr1:245961020-245961170	AG10803	skin:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
37	CTCF	chr1:245961029-245961172	LNCaP	prostate:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
38	CTCF	chr1:245961040-245961190	AoAF	blood vessel:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
39	CTCF	chr1:245961040-245961190	GM12878	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
40	CTCF	chr1:245961000-245961150	MCF-7	breast:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
41	CTCF	chr1:245958360-245958510	BE2_C	brain:	n/a	n/a
42	CTCF	chr1:245961020-245961170	HCFaa	heart:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
43	CTCF	chr1:245960960-245961110	GM12867	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
44	CTCF	chr1:245961015-245961156	A549	lung:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
45	CTCF	chr1:245961000-245961150	BJ	skin:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
46	CTCF	chr1:245960960-245961110	GM12865	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
47	CTCF	chr1:245961012-245961134	GM12891	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
48	CTCF	chr1:245961000-245961150	GM12874	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
49	CTCF	chr1:245960960-245961110	HL-60	blood:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081
50	CTCF	chr1:245961000-245961150	HAc	cerebellar:	n/a	chr1:245961064-245961080 chr1:245961058-245961079 chr1:245961063-245961081

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:245963324-245963374	HEEpiC	esophagus:	n/a
2	chr1:245963324-245963374	GM19239	blood:	n/a
3	chr1:245963324-245963374	AoSMC	blood vessel:	n/a
4	chr1:245963324-245963374	Jurkat	blood:	n/a
5	chr1:245963324-245963374	HIPEpiC	eye:	n/a
6	chr1:245963324-245963374	HAEpiC	amniotic membrane:	n/a
7	chr1:245963324-245963374	HCM	heart:	n/a
8	chr1:245963324-245963374	NB4	blood:	n/a
9	chr1:245963324-245963374	GM12892	blood:	n/a
10	chr1:245963324-245963374	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:245963324-245963374	ovcar-3	ovarian:	n/a
12	chr1:245963324-245963374	GM12891	blood:	n/a
13	chr1:245963324-245963374	IMR90	lung:	fetal
14	chr1:245963324-245963374	HL-60	blood:	n/a
15	chr1:245963324-245963374	ProgFib	skin:	n/a
16	chr1:245963324-245963374	HRPEpiC	eye:	n/a
17	chr1:245963324-245963374	AG09309	skin:	n/a
18	chr1:245963324-245963374	GM06990	blood:	n/a
19	chr1:245963324-245963374	NHBE	bronchial:	n/a
20	chr1:245963324-245963374	A549	lung:	n/a
21	chr1:245963324-245963374	PFSK-1	brain:	n/a
22	chr1:245963324-245963374	HCT-116	colon:	n/a
23	chr1:245963324-245963374	RPTEC	kidney:	n/a
24	chr1:245963324-245963374	PANC-1	pancreas:	n/a
25	chr1:245963324-245963374	HepG2	liver:	n/a
26	chr1:245963324-245963374	T-47D	breast:	n/a
27	chr1:245963324-245963374	NT2-D1	testis:	n/a
28	chr1:245963324-245963374	MCF-7	breast:	n/a
29	chr1:245963324-245963374	HEK293	kidney:	embryo
30	chr1:245963324-245963374	NH-A	brain:	n/a
31	chr1:245963324-245963374	Hepatocyte	liver:	n/a
32	chr1:245963324-245963374	AG04449	skin:	fetal
33	chr1:245963324-245963374	AG09319	gingival:	n/a
34	chr1:245963324-245963374	K562	blood:	n/a
35	chr1:245963324-245963374	SAEC	small airway:	n/a
36	chr1:245963324-245963374	HUVEC	blood vessel:	n/a
37	chr1:245963324-245963374	U87	brain:	n/a
38	chr1:245963324-245963374	HRE	kidney:	n/a
39	chr1:245963324-245963374	SK-N-MC	brain:	n/a
40	chr1:245963324-245963374	BJ	skin:	n/a
41	chr1:245963324-245963374	Hela-S3	cervix:	n/a
42	chr1:245963324-245963374	CMK	blood:	n/a
43	chr1:245963324-245963374	AG04450	lung:	fetal
44	chr1:245963324-245963374	SK-N-SH	brain:	n/a
45	chr1:245963324-245963374	H1-hESC	embryonic stem cell:	embryo
46	chr1:245963324-245963374	AG10803	skin:	n/a
47	chr1:245963324-245963374	Caco-2	colon:	n/a
48	chr1:245963324-245963374	HNPCEpiC	eye:	n/a
49	chr1:245963324-245963374	NHDF-neo	bronchial:	n/a
50	chr1:245963324-245963374	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:245961566..245963141-chr1:245966435..245969195,2	K562	blood:
2	chr1:245961566..245963141-chr1:245966435..245969195,2	K562	blood:
3	chr1:245951618..245953309-chr1:245958788..245960610,2	K562	blood:
4	chr1:245955103..245956955-chr1:245958700..245960515,2	K562	blood:
5	chr1:245965294..245968068-chr1:245973609..245975680,2	K562	blood:
6	chr1:245967776..245970325-chr1:245971274..245973112,2	K562	blood:
7	chr1:245949980..245953716-chr1:245955900..245958443,3	K562	blood:
8	chr1:245958486..245963819-chr1:245964384..245971753,7	K562	blood:
9	chr1:245942970..245944727-chr1:245958488..245960001,2	K562	blood:
10	chr1:245958486..245963819-chr1:245964384..245971753,7	K562	blood:
11	chr1:245960480..245963243-chr16:81039754..81042130,2	MCF-7	breast:
12	chr1:245955103..245956955-chr1:245958700..245960515,2	K562	blood:

Variant related genes	Relation type
SMYD3	TF binding region
SMYD3	CpG island
ENSG00000103121	chromatin interactions
ENSG00000185420	chromatin interactions
ENSG00000166451	chromatin interactions

Extended variants
information (count: 639 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558399084	chr1:245956324-245956325	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569670808	chr1:245956330-245956331	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535469501	chr1:245956333-245956334	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs151121989	chr1:245956335-245956336	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141032104	chr1:245956336-245956337	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs386641599	chr1:245956339-245956340	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182954264	chr1:245956340-245956341	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577778920	chr1:245956341-245956342	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2791386	chr1:245956350-245956351	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187042691	chr1:245956351-245956352	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542641245	chr1:245956355-245956356	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553226471	chr1:245956357-245956358	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191092759	chr1:245956358-245956359	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs544789987	chr1:245956359-245956360	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564673162	chr1:245956360-245956361	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577865846	chr1:245956361-245956362	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550410881	chr1:245956371-245956372	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545992546	chr1:245956376-245956377	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183686931	chr1:245956378-245956379	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs12097033	chr1:245956379-245956380	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201171768	chr1:245956386-245956387	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369868188	chr1:245956387-245956388	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs71883202	chr1:245956388-245956389	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2791387	chr1:245956393-245956394	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs386641600	chr1:245956396-245956397	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs2791388	chr1:245956397-245956398	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536842938	chr1:245956399-245956400	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11583273	chr1:245956407-245956408	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs6667073	chr1:245956408-245956409	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533613717	chr1:245956410-245956411	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552967093	chr1:245956414-245956415	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs572769716	chr1:245956417-245956418	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs6661200	chr1:245956418-245956419	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376118182	chr1:245956421-245956422	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs2791389	chr1:245956422-245956423	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530509791	chr1:245956423-245956424	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs185786958	chr1:245956425-245956426	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs58127975	chr1:245956427-245956428	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376993566	chr1:245956428-245956429	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559295517	chr1:245956433-245956434	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs35759946	chr1:245956438-245956439	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs6675359	chr1:245956439-245956440	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10924337	chr1:245956440-245956441	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558187532	chr1:245956455-245956456	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs112632614	chr1:245956463-245956464	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs550776669	chr1:245956467-245956468	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112869029	chr1:245956468-245956469	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12066346	chr1:245956472-245956473	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs553305983	chr1:245956479-245956480	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs572759760	chr1:245956480-245956481	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245932000-245966200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:245949200-245961400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:245949200-245999600	Weak transcription	Gastric	stomach
4	chr1:245952000-245970400	Weak transcription	Aorta	Aorta
5	chr1:245954400-245956600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:245955000-245964000	Weak transcription	Osteobl	bone
7	chr1:245955200-245964200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:245955200-245970800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:245955600-245964000	Weak transcription	Fetal Stomach	stomach
10	chr1:245956200-245960000	Weak transcription	K562	blood
11	chr1:245956200-245960200	Weak transcription	Fetal Heart	heart
12	chr1:245956600-245957000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:245957000-245970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:245958400-245958600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:245958400-245958600	Enhancers	Pancreas	Pancrea
16	chr1:245960000-245960400	Strong transcription	K562	blood
17	chr1:245960200-245960600	Enhancers	Fetal Heart	heart
18	chr1:245960400-245965200	Weak transcription	K562	blood
19	chr1:245960600-245961400	Weak transcription	Fetal Heart	heart
20	chr1:245961200-245961600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:245961400-245962000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:245961400-245964600	Enhancers	Fetal Heart	heart
23	chr1:245961400-245965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:245961400-245968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:245961600-245961800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:245961600-245961800	Enhancers	Fetal Brain Male	brain
27	chr1:245961800-245980000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:245962000-245972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:245962600-245963200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:245962600-245970400	Weak transcription	HepG2	liver
31	chr1:245963000-245963400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:245963000-245963400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:245963000-245963600	Enhancers	Left Ventricle	heart
34	chr1:245963400-245964600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:245963400-245970400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:245964000-245964200	Enhancers	Fetal Stomach	stomach
37	chr1:245964200-245964600	Weak transcription	Fetal Stomach	stomach
38	chr1:245964200-245964800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr1:245964600-245964800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:245964600-245964800	Enhancers	Fetal Stomach	stomach
41	chr1:245964600-245964800	Enhancers	NH-A	brain
42	chr1:245964600-245965000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:245964600-245968400	Enhancers	Placenta	Placenta
44	chr1:245964600-245971200	Weak transcription	Fetal Heart	heart
45	chr1:245964800-245965600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:245964800-245970400	Weak transcription	NH-A	brain
47	chr1:245964800-245973800	Weak transcription	Fetal Stomach	stomach
48	chr1:245965000-245965400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:245965200-245966800	Strong transcription	K562	blood
50	chr1:245965200-245967400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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